Thursday, September 18, 2008

Last week Thursday, I had my first trimester screening test done. The test consisted of an ultrasound and some blood work, and the main purpose of the test in general is to find out the probability a baby has of having certain genetic disorders (Down Syndrome being the main one). It's a test that is done to obtain a probability percentage of the baby having a genetic disorder, and based on that percentage, parents can decide whether or not they want to undergo further testing (amnio, CVS) to find out for almost certain whether or not the baby will have some sort of a disorder.

At first, Aaron and I decided that we were not going to have the test done since it's optional. We were so thrilled that we were able to get pregnant again so quickly after our miscarriage earlier this year that we didn't even consider needing any further testing. However, after my first visit with Dr. Fabulous and seeing our little one on an ultrasound, we decided that it wouldn't hurt to have the first trimester screen done. After all, it would give us another opportunity to see our baby via ultrasound, and given the fact that I am only 30 and Aaron and I don't have any genetic disorders in our familites, we figured the probability of something being wrong was relatively small.

The nurse from the Maternal Fetal Care Center called me yesterday with the results of my screen. There were two sets of results. The first dealt with Trisomy 18 (aka Edward's Syndrome), which is a genetic disorder in which the baby has an extra 18th chromosome. The prognosis for these babies isn't very good--the baby can have heart abnormalities, kidney malfunction, and other scary things. Based on the results of my testing and my age, the baby has a 1 in 740 or .013% chance of having this disorder, so those results were very reassuring to me.

The second set of results dealt with Down Syndrome. Given my age alone, the chances of the baby having Down Syndrome is 1 in 490. However, based on the results of the bloodwork and the ultrasound, the probability increased to 1 in 22, or just shy of 5% (4.55%). The reasons that the probability went up so much is because I have a higher than normal amount of hCG in my blood and a lower than normal (but very close to normal) amount of the PAPP-A hormone (which measures the health of the placenta).

When the nurse delivered that news, she kept saying, "I'm sorry. I'm so sorry," and the whole time I was thinking, "Wait, you just told me that my baby has a 95% chance of NOT having Down Syndrome. Why are you apologizing?" I asked her this, and she told me that having a probability of 5% is considered a positive result for the screening and that further testing is warranted and recommended. She went on to tell me that the two tests that we could consider to find out with almost total certainty whether or not the baby will have a genetic disorder are chorionic villus sampling (a placental biopsy) or amniocentesis. And then she proceeded to convince me with all of her might that I should have one of these tests done. "We can do the CVS tomorrow if you want!" "Or today!" "Anytime you want!" "We can have the results back in one day!" "You can rest easy!" I could almost feel her pulling me through the phone and into the clinic.

Whoa biatch. Put down the needle and step away from my placenta.

First of all, if the baby does have Down Syndrome (and chances are very slim that it does), we wouldn't do anything about it. We would keep the baby. No question. Also, both the CVS and the amnio carry a risk (albeit a small one--about 1/2%) of miscarriage, and I just had one of those, so I don't want to risk having another one when we could lose a perfectly healthy baby. That and the thought of having a needle shoved in either my cervix or my abdomen freaks me the hell out. Some women may jump at the chance for this testing--I am not one of those women.

I am almost wishing that I hadn't had the screening done, just because we knew from the beginning that no matter what the results were, we are keeping the baby, and now we are going to have this miniscule chance of the baby having a genetic disorder in the back of our minds for the rest of the pregnancy. My mom said something very wise when I talked to her about this. She works in an OB-GYN clinic, and she said that sometimes she thinks that there are too darn many tests nowadays. Normally I don't agree with the whole "we used to do things this way and you kids turned out fine" logic, but I had to nod in agreement with her when she told me she had two blood tests done with both of her pregnancies and she's glad that was all that was offered to her.

I have an appointment with my doctor tomorrow and I intend to talk to her about this at length. I am pretty sure (because she is fabulous) that she is going to be supportive of our decision not to have further testing done. The one thing that did concern me and I need further clarification on is the low levels of PAPP-A. From the research I have done (and the information out there is sparse at best), low levels of this hormone can indicate future problems with the viability of the placenta in the third trimester--and this requires increased monitoring during the third trimester--and also can indicate an increased risk of preeclampsia. Since I had high blood pressure when I was pregnant with Gracie and needed to deliver early because of it, the preeclampsia thing scares me a bit.